ターゲット情報

機能Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level.

関連疾患Defects in SYN1 are a cause of epilepsy X-linked with variable learning disabilities and behavior disorders [MIM:300491]. XELBD is characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior.

配列類似性Belongs to the synapsin family.

翻訳後修飾Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the regulation of synapsin-1 in the nerve terminal. Phosphorylated upon DNA damage, probably by ATM or ATR.

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